MT-ND4L: Difference between revisions

Latest revision as of 16:24, 16 February 2025

MT-ND4L[edit]

MT-ND4L is a gene located in the mitochondrial DNA of humans. It encodes a subunit of the NADH dehydrogenase (ubiquinone) complex, which is also known as Complex I of the electron transport chain. This complex plays a crucial role in the process of oxidative phosphorylation, which is essential for the production of adenosine triphosphate (ATP) in eukaryotic cells.

Structure[edit]

The MT-ND4L gene is one of the 37 genes found in the mitochondrial genome. It is located on the heavy strand of the mitochondrial DNA and spans approximately 297 base pairs. The gene is transcribed and translated within the mitochondria, and the resulting protein is integrated into the inner mitochondrial membrane as part of Complex I.

Function[edit]

MT-ND4L encodes a protein that is a component of the NADH dehydrogenase complex. This complex is the first enzyme of the mitochondrial electron transport chain. It catalyzes the transfer of electrons from NADH to ubiquinone, a process that is coupled with the translocation of protons across the inner mitochondrial membrane. This proton gradient is then used by ATP synthase to generate ATP, the primary energy currency of the cell.

Clinical Significance[edit]

Mutations in the MT-ND4L gene can lead to mitochondrial dysfunction, which is associated with a variety of mitochondrial diseases. These diseases often affect tissues with high energy demands, such as the nervous system, muscles, and heart. Symptoms can include muscle weakness, neurological disorders, and cardiomyopathy.

Related pages[edit]

Template:Mitochondrial genetics

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-'''MT-ND4L''' (Mitochondrial NADH dehydrogenase subunit 4L) is a gene that encodes one of the subunits of the enzyme [[NADH dehydrogenase (ubiquinone)]], also known as Complex I, which is located in the mitochondrial inner membrane. Complex I plays a crucial role in the [[mitochondrial respiratory chain]], which is responsible for the production of [[ATP]] through the process of [[oxidative phosphorylation]]. This process is fundamental for the conversion of energy from food into a form that cells can use.
+== MT-ND4L ==
+[[File:Map_of_the_human_mitochondrial_genome.svg|thumb|right|Map of the human mitochondrial genome]]
+'''MT-ND4L''' is a gene located in the [[mitochondrial DNA]] of humans. It encodes a subunit of the [[NADH dehydrogenase]] (ubiquinone) complex, which is also known as [[Complex I]] of the [[electron transport chain]]. This complex plays a crucial role in the process of [[oxidative phosphorylation]], which is essential for the production of [[adenosine triphosphate]] (ATP) in [[eukaryotic cells]].
+== Structure ==
+The MT-ND4L gene is one of the 37 genes found in the [[mitochondrial genome]]. It is located on the [[heavy strand]] of the mitochondrial DNA and spans approximately 297 base pairs. The gene is transcribed and translated within the mitochondria, and the resulting protein is integrated into the inner mitochondrial membrane as part of Complex I.
 == Function ==
-The MT-ND4L gene encodes a protein that is part of the Complex I assembly, which consists of over 40 different subunits. Complex I functions to transfer electrons from NADH to ubiquinone, initiating a series of redox reactions that ultimately drive the synthesis of ATP. The MT-ND4L subunit, specifically, is involved in the early stages of the electron transfer pathway, playing a critical role in the overall efficiency and regulation of mitochondrial energy production.
-== Genetic Location ==
+MT-ND4L encodes a protein that is a component of the NADH dehydrogenase complex. This complex is the first enzyme of the mitochondrial electron transport chain. It catalyzes the transfer of electrons from NADH to [[ubiquinone]], a process that is coupled with the translocation of protons across the inner mitochondrial membrane. This proton gradient is then used by [[ATP synthase]] to generate ATP, the primary energy currency of the cell.
-MT-ND4L is located within the mitochondrial genome, which is distinct from the nuclear genome. Mitochondrial DNA (mtDNA) is inherited maternally and contains 37 genes, all of which are essential for mitochondrial function. The MT-ND4L gene is one of these 37 genes, highlighting its importance in cellular energy metabolism.
 == Clinical Significance ==
-Mutations in the MT-ND4L gene have been associated with various mitochondrial diseases, which are a group of disorders caused by dysfunctional mitochondria. These diseases can affect multiple systems in the body, but often have a significant impact on organs with high energy demands such as the brain, heart, and muscles. Conditions linked to mutations in the MT-ND4L gene include [[Leber's hereditary optic neuropathy (LHON)]] and some forms of [[mitochondrial myopathy]]. Patients with mutations in this gene may experience symptoms ranging from muscle weakness and exercise intolerance to more severe neurodegenerative conditions.
-== Research ==
+Mutations in the MT-ND4L gene can lead to mitochondrial dysfunction, which is associated with a variety of [[mitochondrial diseases]]. These diseases often affect tissues with high energy demands, such as the [[nervous system]], [[muscles]], and [[heart]]. Symptoms can include [[muscle weakness]], [[neurological disorders]], and [[cardiomyopathy]].
-Ongoing research is focused on understanding the precise role of the MT-ND4L subunit in mitochondrial function and how mutations in the MT-ND4L gene contribute to disease pathology. Studies are also exploring potential therapeutic strategies to address mitochondrial dysfunction by targeting the mitochondrial genome or by compensating for the loss of function caused by specific genetic mutations.
+== Related pages ==
-== See Also ==
 * [[Mitochondrial DNA]]
+* [[Electron transport chain]]
 * [[Oxidative phosphorylation]]
-* [[Mitochondrial disease]]
+* [[NADH dehydrogenase]]
-* [[NADH dehydrogenase (ubiquinone)]]
+* [[Mitochondrial diseases]]
+{{Mitochondrial genetics}}
-[[Category:Genes]]
 [[Category:Mitochondrial genetics]]
-{{Genetics-stub}}
+[[Category:Genes on human mitochondrial DNA]]
-== References ==
-<references/>
-{{Medicine-stub}}